Function and expression pattern of nonsyndromic deafness genes

Nele Hilgert; Richard J H Smith; Guy Van Camp

doi:10.2174/156652409788488775

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Function and expression pattern of nonsyndromic deafness genes

Journal article

Peer reviewed

Function and expression pattern of nonsyndromic deafness genes

Nele Hilgert, Richard J H Smith and Guy Van Camp

Current molecular medicine, Vol.9(5), pp.546-564

06/2009

DOI: 10.2174/156652409788488775

PMCID: PMC2840995

PMID: 19601806

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Abstract

Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overview of the inner ear function and expression pattern of these genes. In general, they are involved in hair bundle morphogenesis, form constituents of the extracellular matrix, play a role in cochlear ion homeostasis or serve as transcription factors. During the past few years, our knowledge of genes involved in hair bundle morphogenesis has increased substantially. We give an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in this process, highlighting proteins that interact to form macromolecular complexes. For every gene, we also summarize its expression pattern and impact on hearing at the functional level. Gene-specific cochlear expression is summarized in a unique table by structure/cell type and is illustrated on a cochlear cross-section, which is available online via the Hereditary Hearing Loss Homepage. This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.

Deafness - pathology

Hearing Loss - genetics

Genetic Predisposition to Disease - genetics

Deafness - genetics

Cochlea - metabolism

Cochlea - pathology

Humans

Gene Expression Profiling

Mitochondrial Proteins - genetics

Hearing Loss - pathology

Mutation

Details

Title: Subtitle: Function and expression pattern of nonsyndromic deafness genes
Creators: Nele Hilgert - Department of Medical Genetics, University of Antwerp (UA), Belgium
Richard J H Smith
Guy Van Camp
Resource Type: Journal article
Publication Details: Current molecular medicine, Vol.9(5), pp.546-564
DOI: 10.2174/156652409788488775
PMID: 19601806
PMCID: PMC2840995
NLM abbreviation: Curr Mol Med
ISSN: 1566-5240
eISSN: 1875-5666
Publisher: Netherlands
Grant note: R01 DC003544 / NIDCD NIH HHS DC03544 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS DC02842 / NIDCD NIH HHS R01 DC003544-11 / NIDCD NIH HHS R01 DC002842-13 / NIDCD NIH HHS
Language: English
Date published: 06/2009
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006319802771

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